Canonical Allele Identifier: CA2586965091

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166012213_166012215delinsTAATGAAT , CM000664.2:g.166012213_166012215delinsTAATGAAT	GRCh38
NC_000002.11:g.166868723_166868725delinsTAATGAAT , CM000664.1:g.166868723_166868725delinsTAATGAAT	GRCh37
NC_000002.10:g.166576969_166576971delinsTAATGAAT	NCBI36
NG_011906.1:g.66425_66427delinsATTCATTA , LRG_8:g.66425_66427delinsATTCATTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*1809_*1811delinsATTCATTA	ENSP00000509637.1:n.*1809_*1811delinsATTC...
ENST00000303395.9:c.3773_3775delinsATTCATTA	ENSP00000303540.4:p.Val1258AspfsTer14
ENST00000635750.1:c.3740_3742delinsATTCATTA	ENSP00000490799.1:p.Val1247AspfsTer14
ENST00000635776.1:c.3740_3742delinsATTCATTA	ENSP00000490692.1:p.Val1247AspfsTer14
ENST00000636194.1:c.*1266_*1268delinsATTCATTA	ENSP00000490288.1:n.*1266_*1268delinsATTC...
ENST00000637038.1:c.571_573delinsATTCATTA
ENST00000637968.1:n.4025_4027delinsATTCATTA
ENST00000637988.1:c.3740_3742delinsATTCATTA	ENSP00000490780.1:p.Val1247AspfsTer14
ENST00000640036.1:c.3740_3742delinsATTCATTA	ENSP00000491573.1:p.Val1247AspfsTer14
ENST00000641575.1:c.3737_3739delinsATTCATTA	ENSP00000492917.1:p.Val1246AspfsTer14
ENST00000641603.1:c.3773_3775delinsATTCATTA	ENSP00000492945.1:p.Val1258AspfsTer14
ENST00000641996.1:c.*3327_*3329delinsATTCATTA	ENSP00000493054.1:n.*3327_*3329delinsATTC...
ENST00000671940.1:c.*1716_*1718delinsATTCATTA	ENSP00000500336.1:n.*1716_*1718delinsATTC...
ENST00000673490.1:n.6246_6248delinsATTCATTA
ENST00000674923.1:c.3773_3775delinsATTCATTA MANE Select	ENSP00000501589.1:p.Val1258AspfsTer14
ENST00000303395.8:c.3773_3775delinsATTCATTA	ENSP00000303540.4:p.Val1258AspfsTer14
ENST00000375405.7:c.3740_3742delinsATTCATTA	ENSP00000364554.3:p.Val1247AspfsTer14
ENST00000409050.1:c.3689_3691delinsATTCATTA	ENSP00000386312.1:p.Val1230AspfsTer14
ENST00000423058.6:c.3773_3775delinsATTCATTA	ENSP00000407030.2:p.Val1258AspfsTer14
NM_001165963.1:c.3773_3775delinsATTCATTA	NP_001159435.1:p.Val1258AspfsTer14
NM_001165964.1:c.3689_3691delinsATTCATTA	NP_001159436.1:p.Val1230AspfsTer14
NM_001202435.1:c.3773_3775delinsATTCATTA	NP_001189364.1:p.Val1258AspfsTer14
NM_006920.4:c.3740_3742delinsATTCATTA , LRG_8t1:c.3740_3742delinsATTCATTA	NP_008851.3:p.Val1247AspfsTer14
NR_110598.1:n.176-3400_176-3398delinsTAATGAAT
XM_011511598.1:c.3773_3775delinsATTCATTA	XP_011509900.1:p.Val1258AspfsTer14
XM_011511599.1:c.3773_3775delinsATTCATTA	XP_011509901.1:p.Val1258AspfsTer14
XM_011511600.1:c.3773_3775delinsATTCATTA	XP_011509902.1:p.Val1258AspfsTer14
XM_011511601.1:c.3773_3775delinsATTCATTA	XP_011509903.1:p.Val1258AspfsTer14
XM_011511602.1:c.3773_3775delinsATTCATTA	XP_011509904.1:p.Val1258AspfsTer14
XM_011511603.1:c.3770_3772delinsATTCATTA	XP_011509905.1:p.Val1257AspfsTer14
XM_011511604.1:c.3740_3742delinsATTCATTA	XP_011509906.1:p.Val1247AspfsTer14
XM_011511605.1:c.3737_3739delinsATTCATTA	XP_011509907.1:p.Val1246AspfsTer14
XM_011511606.1:c.3689_3691delinsATTCATTA	XP_011509908.1:p.Val1230AspfsTer14
XM_011511607.1:c.3773_3775delinsATTCATTA	XP_011509909.1:p.Val1258AspfsTer14
XR_922981.1:n.3957_3959delinsATTCATTA
NM_001165963.2:c.3773_3775delinsATTCATTA	NP_001159435.1:p.Val1258AspfsTer14
NM_001165964.2:c.3689_3691delinsATTCATTA	NP_001159436.1:p.Val1230AspfsTer14
NM_001202435.2:c.3773_3775delinsATTCATTA	NP_001189364.1:p.Val1258AspfsTer14
NM_001353948.1:c.3773_3775delinsATTCATTA	NP_001340877.1:p.Val1258AspfsTer14
NM_001353949.1:c.3740_3742delinsATTCATTA	NP_001340878.1:p.Val1247AspfsTer14
NM_001353950.1:c.3740_3742delinsATTCATTA	NP_001340879.1:p.Val1247AspfsTer14
NM_001353951.1:c.3740_3742delinsATTCATTA	NP_001340880.1:p.Val1247AspfsTer14
NM_001353952.1:c.3740_3742delinsATTCATTA	NP_001340881.1:p.Val1247AspfsTer14
NM_001353954.1:c.3737_3739delinsATTCATTA	NP_001340883.1:p.Val1246AspfsTer14
NM_001353955.1:c.3737_3739delinsATTCATTA	NP_001340884.1:p.Val1246AspfsTer14
NM_001353957.1:c.3689_3691delinsATTCATTA	NP_001340886.1:p.Val1230AspfsTer14
NM_001353958.1:c.3689_3691delinsATTCATTA	NP_001340887.1:p.Val1230AspfsTer14
NM_001353960.1:c.3686_3688delinsATTCATTA	NP_001340889.1:p.Val1229AspfsTer14
NM_001353961.1:c.1331_1333delinsATTCATTA	NP_001340890.1:p.Val444AspfsTer14
NM_006920.5:c.3740_3742delinsATTCATTA	NP_008851.3:p.Val1247AspfsTer14
NR_148667.1:n.4145_4147delinsATTCATTA
XR_001738883.1:n.4159_4161delinsATTCATTA
XR_001738884.1:n.4131_4133delinsATTCATTA
NM_001165963.3:c.3773_3775delinsATTCATTA	NP_001159435.1:p.Val1258AspfsTer14
NM_001165964.3:c.3689_3691delinsATTCATTA	NP_001159436.1:p.Val1230AspfsTer14
NM_001202435.3:c.3773_3775delinsATTCATTA	NP_001189364.1:p.Val1258AspfsTer14
NM_001353948.2:c.3773_3775delinsATTCATTA	NP_001340877.1:p.Val1258AspfsTer14
NM_001353949.2:c.3740_3742delinsATTCATTA	NP_001340878.1:p.Val1247AspfsTer14
NM_001353950.2:c.3740_3742delinsATTCATTA	NP_001340879.1:p.Val1247AspfsTer14
NM_001353951.2:c.3740_3742delinsATTCATTA	NP_001340880.1:p.Val1247AspfsTer14
NM_001353952.2:c.3740_3742delinsATTCATTA	NP_001340881.1:p.Val1247AspfsTer14
NM_001353954.2:c.3737_3739delinsATTCATTA	NP_001340883.1:p.Val1246AspfsTer14
NM_001353955.2:c.3737_3739delinsATTCATTA	NP_001340884.1:p.Val1246AspfsTer14
NM_001353957.2:c.3689_3691delinsATTCATTA	NP_001340886.1:p.Val1230AspfsTer14
NM_001353958.2:c.3689_3691delinsATTCATTA	NP_001340887.1:p.Val1230AspfsTer14
NM_001353960.2:c.3686_3688delinsATTCATTA	NP_001340889.1:p.Val1229AspfsTer14
NM_001353961.2:c.1331_1333delinsATTCATTA	NP_001340890.1:p.Val444AspfsTer14
NM_006920.6:c.3740_3742delinsATTCATTA	NP_008851.3:p.Val1247AspfsTer14
NR_148667.2:n.4126_4128delinsATTCATTA
NM_001165963.4:c.3773_3775delinsATTCATTA MANE Select	NP_001159435.1:p.Val1258AspfsTer14